Atlas of Genetics and Cytogenetics in Oncology and Haematology


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X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

EYS (eyes shut homolog)

Identity

Alias_namesC6orf180
EGFL11
RP25
EGFL10
C6orf178
C6orf179
chromosome 6 open reading frame 180
EGF-like-domain, multiple 11
retinitis pigmentosa 25 (autosomal recessive)
EGF-like-domain, multiple 10
chromosome 6 open reading frame 178
chromosome 6 open reading frame 179
Alias_symbol (synonym)dJ1018A4.2
bA166P24.2
SPAM
bA307F22.3
dJ303F19.1
bA74E24.1
Other aliasdJ22I17.2
HGNC (Hugo) EYS
LocusID (NCBI) 346007
Atlas_Id 54295
Location 6q12  [Link to chromosome band 6q12]
Location_base_pair Starts at 65334913 and ends at 65579804 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DST (6p12.1) / EYS (6q12)EEF1E1 (6p24.3) / EYS (6q12)EYS (6q12) / DEK (6p22.3)
EYS (6q12) / SCARB2 (4q21.1)KIDINS220 (2p25.1) / EYS (6q12)LMBRD1 (6q13) / EYS (6q12)
MED1 (17q12) / EYS (6q12)PHF3 (6q12) / EYS (6q12)PTP4A1 (6q12) / EYS (6q12)
SESN1 (6q21) / EYS (6q12)SLC10A7 (4q31.22) / EYS (6q12)TPX2 (20q11.21) / EYS (6q12)
DST 6p12.1 / EYS 6q12EEF1E1 6p24.3 / EYS 6q12KIDINS220 2p25.1 / EYS 6q12
LMBRD1 6q13 / EYS 6q12MED1 17q12 / EYS 6q12PHF3 6q12 / EYS 6q12
PTP4A1 6q12 / EYS 6q12SESN1 6q21 / EYS 6q12SLC10A7 4q31.22 / EYS 6q12
TPX2 20q11.21 / EYS 6q12

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 7 ]
  Lung: Translocations in Squamous Cell Carcinoma
t(2;6)(p25;q12) KIDINS220/EYS
t(4;6)(q31;q12) SLC10A7/EYS
t(6;6)(p12;q12) DST/EYS
t(6;6)(p22;q12) EYS/DEK
t(6;6)(p24;q12) EEF1E1/EYS
t(6;20)(q12;q11) TPX2/EYS


External links

Nomenclature
HGNC (Hugo)EYS   21555
Cards
Entrez_Gene (NCBI)EYS  346007  eyes shut homolog
AliasesC6orf178; C6orf179; C6orf180; EGFL10; 
EGFL11; RP25; SPAM; bA166P24.2; bA307F22.3; bA74E24.1; dJ1018A4.2; dJ22I17.2; dJ303F19.1
GeneCards (Weizmann)EYS
Ensembl hg19 (Hinxton)ENSG00000188107 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000188107 [Gene_View]  ENSG00000188107 [Sequence]  chr6:65334913-65579804 [Contig_View]  EYS [Vega]
ICGC DataPortalENSG00000188107
TCGA cBioPortalEYS
AceView (NCBI)EYS
Genatlas (Paris)EYS
WikiGenes346007
SOURCE (Princeton)EYS
Genetics Home Reference (NIH)EYS
Genomic and cartography
GoldenPath hg38 (UCSC)EYS  -     chr6:65334913-65579804 -  6q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EYS  -     6q12   [Description]    (hg19-Feb_2009)
EnsemblEYS - 6q12 [CytoView hg19]  EYS - 6q12 [CytoView hg38]
Mapping of homologs : NCBIEYS [Mapview hg19]  EYS [Mapview hg38]
OMIM602772   612424   
Gene and transcription
Genbank (Entrez)AB593112 AB593114 AK310478 AY358133 BC133011
RefSeq transcript (Entrez)NM_001142800 NM_001142801 NM_001292009 NM_198283
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EYS
Cluster EST : UnigeneHs.25067 [ NCBI ]
CGAP (NCI)Hs.25067
Alternative Splicing GalleryENSG00000188107
Gene ExpressionEYS [ NCBI-GEO ]   EYS [ EBI - ARRAY_EXPRESS ]   EYS [ SEEK ]   EYS [ MEM ]
Gene Expression Viewer (FireBrowse)EYS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)346007
GTEX Portal (Tissue expression)EYS
Human Protein AtlasENSG00000188107-EYS [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5T1H1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5T1H1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5T1H1
Splice isoforms : SwissVarQ5T1H1
PhosPhoSitePlusQ5T1H1
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    LAM_G_DOMAIN (PS50025)   
Domains : Interpro (EBI)ConA-like_dom_sf    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    Growth_fac_rcpt_cys_sf    Laminin_G   
Domain families : Pfam (Sanger)EGF (PF00008)    hEGF (PF12661)    Laminin_G_2 (PF02210)   
Domain families : Pfam (NCBI)pfam00008    pfam12661    pfam02210   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  LamG (SM00282)  
Conserved Domain (NCBI)EYS
DMDM Disease mutations346007
Blocks (Seattle)EYS
SuperfamilyQ5T1H1
Human Protein Atlas [tissue]ENSG00000188107-EYS [tissue]
Peptide AtlasQ5T1H1
HPRD16853
IPIIPI00887249   IPI00375230   IPI00923621   IPI00643680   IPI00914000   IPI01025110   
Protein Interaction databases
DIP (DOE-UCLA)Q5T1H1
IntAct (EBI)Q5T1H1
FunCoupENSG00000188107
BioGRIDEYS
STRING (EMBL)EYS
ZODIACEYS
Ontologies - Pathways
QuickGOQ5T1H1
Ontology : AmiGOmolecular_function  calcium ion binding  skeletal muscle tissue regeneration  detection of light stimulus involved in visual perception  extracellular exosome  
Ontology : EGO-EBImolecular_function  calcium ion binding  skeletal muscle tissue regeneration  detection of light stimulus involved in visual perception  extracellular exosome  
NDEx NetworkEYS
Atlas of Cancer Signalling NetworkEYS
Wikipedia pathwaysEYS
Orthology - Evolution
OrthoDB346007
GeneTree (enSembl)ENSG00000188107
Phylogenetic Trees/Animal Genes : TreeFamEYS
HOVERGENQ5T1H1
HOGENOMQ5T1H1
Homologs : HomoloGeneEYS
Homology/Alignments : Family Browser (UCSC)EYS
Gene fusions - Rearrangements
Fusion : MitelmanDST/EYS [6p12.1/6q12]  [t(6;6)(p12;q12)]  
Fusion : MitelmanEEF1E1/EYS [6p24.3/6q12]  [t(6;6)(p24;q12)]  
Fusion : MitelmanEYS/DEK [6q12/6p22.3]  [t(6;6)(p22;q12)]  
Fusion : MitelmanKIDINS220/EYS [2p25.1/6q12]  [t(2;6)(p25;q12)]  
Fusion : MitelmanSLC10A7/EYS [4q31.22/6q12]  [t(4;6)(q31;q12)]  
Fusion : MitelmanTPX2/EYS [20q11.21/6q12]  [t(6;20)(q12;q11)]  
Fusion PortalDST 6p12.1 EYS 6q12 GBM
Fusion PortalEEF1E1 6p24.3 EYS 6q12 BRCA
Fusion PortalKIDINS220 2p25.1 EYS 6q12 BLCA
Fusion PortalLMBRD1 6q13 EYS 6q12 BRCA
Fusion PortalMED1 17q12 EYS 6q12 BRCA
Fusion PortalPHF3 6q12 EYS 6q12 BRCA
Fusion PortalPTP4A1 6q12 EYS 6q12 BRCA
Fusion PortalSESN1 6q21 EYS 6q12 LUSC
Fusion PortalSLC10A7 4q31.22 EYS 6q12 PRAD
Fusion PortalTPX2 20q11.21 EYS 6q12 LUSC
Fusion : QuiverEYS
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEYS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EYS
dbVarEYS
ClinVarEYS
1000_GenomesEYS 
Exome Variant ServerEYS
ExAC (Exome Aggregation Consortium)ENSG00000188107
GNOMAD BrowserENSG00000188107
Varsome BrowserEYS
Genetic variants : HAPMAP346007
Genomic Variants (DGV)EYS [DGVbeta]
DECIPHEREYS [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEYS 
Mutations
ICGC Data PortalEYS 
TCGA Data PortalEYS 
Broad Tumor PortalEYS
OASIS PortalEYS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEYS  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEYS
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch EYS
DgiDB (Drug Gene Interaction Database)EYS
DoCM (Curated mutations)EYS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EYS (select a term)
intoGenEYS
Cancer3DEYS(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602772    612424   
Orphanet659   
DisGeNETEYS
MedgenEYS
Genetic Testing Registry EYS
NextProtQ5T1H1 [Medical]
TSGene346007
GENETestsEYS
Target ValidationEYS
Huge Navigator EYS [HugePedia]
snp3D : Map Gene to Disease346007
BioCentury BCIQEYS
ClinGenEYS
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD346007
Chemical/Pharm GKB GenePA164719488
Clinical trialEYS
Miscellaneous
canSAR (ICR)EYS (select the gene name)
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEYS
EVEXEYS
GoPubMedEYS
iHOPEYS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:05:23 CET 2018

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